title: Craniosynostosis and radial ray defect: a rare presentation of 22q11.2 deletion syndrome.
abstract: A newborn with bilateral coronal craniosynostosis, hypoplastic thumbs, imperforate anus, and prenatal growth restriction was evaluated and given the clinical diagnosis of Baller-Gerold syndrome (BGS). While confirmatory testing of RECQL4 was pending, the infant developed unexplained hypocalcemia, prompting testing for a 22q11.2 deletion. Subsequently, the infant was found to have a 22q11.2 deletion, and was negative for an RECQL4 mutation. We therefore conclude that 22q11.2 deletion syndrome can present with findings resembling the BGS phenotype.
authors.affiliation: Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294-0024, USA.
authors.forename: Kitiwan
authors.initials: K
authors.lastname: Rojnueangnit
authors.forename: Nathaniel H
authors.initials: NH
authors.lastname: Robin
mesh_terms: D000328:Adult; D055028:Comparative Genomic Hybridization; D003398:Craniosynostoses / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011884:Radius / Q000002:abnormalities; D055815:Young Adult
keywords: 22q11.2 deletion syndrome; Baller-Gerold syndrome; FISH for 22q11.2; craniosynostosis; hypoplastic thumb; imperforate anus; radial ray defect